Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
The clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT) caused by newly identified missense mutation s.65G>T (p.Pro22His) in NEFL gene located on the chromosome 8р21.2 are described. The disease was diagnosed in a large family from...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2016-07-01
|
| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/154 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850025608546877440 |
|---|---|
| author | E. L. Dadali A. Kh.-M. Маkаоv V. A. Galkina F. A. Konovalov A. V. Polyakov M. V. Bulakh R. A. Zinchеnkо |
| author_facet | E. L. Dadali A. Kh.-M. Маkаоv V. A. Galkina F. A. Konovalov A. V. Polyakov M. V. Bulakh R. A. Zinchеnkо |
| author_sort | E. L. Dadali |
| collection | DOAJ |
| description | The clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT) caused by newly identified missense mutation s.65G>T (p.Pro22His) in NEFL gene located on the chromosome 8р21.2 are described. The disease was diagnosed in a large family from Ust-Dzhegutinsky district of the Karachay-Cherkess Republic with the segregation of the disease in four generations. The prevalence of the HMSN in that district was found to be 1:4340 persons, including 1:3376 among Karachays. The clinical picture of the disease was characterized by onset at the age of 11–14 years, weakness in foot muscles and steppage gait. The specific features in the majority of patients were the absence of major sensory disturbances, as well as long-term preserved distal arm muscles. Nerve conduction velocity in the median nerve varied from 30 to 42 m/s, which corresponds to values in patients with CMT2E, previously described. |
| format | Article |
| id | doaj-art-e87714b0c80d4221bf40697cf2a8baa0 |
| institution | DOAJ |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2016-07-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-e87714b0c80d4221bf40697cf2a8baa02025-08-20T03:00:46ZrusABV-pressНервно-мышечные болезни2222-87212413-04432016-07-0162475110.17650/2222-8721-2016-6-2-47-51140Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-CherkessiaE. L. Dadali0A. Kh.-M. Маkаоv1V. A. Galkina2F. A. Konovalov3A. V. Polyakov4M. V. Bulakh5R. A. Zinchеnkо6Research Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, Russia N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; 1 Ostrovityanova St., Moscow, 117997, RussiaKhabez Central District Hospital; 6 Bol’nichnaya St., Khabez Aul, Khabez District, Karachai-Cherkess Republic, 369400, RussiaResearch Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, RussiaOOO “Genomed”; Build. 5, 8 Podol’skoye Shosse, Moscow, 115093, RussiaResearch Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, RussiaResearch Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, RussiaResearch Center of Medical Genetics; 1 Moskvorech’e St., Moscow, 115478, Russia N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; 1 Ostrovityanova St., Moscow, 117997, RussiaThe clinical and genetic features of hereditary motor and sensory neuropathy (HMSN; Charcot–Marie–Tooth disease, CMT) caused by newly identified missense mutation s.65G>T (p.Pro22His) in NEFL gene located on the chromosome 8р21.2 are described. The disease was diagnosed in a large family from Ust-Dzhegutinsky district of the Karachay-Cherkess Republic with the segregation of the disease in four generations. The prevalence of the HMSN in that district was found to be 1:4340 persons, including 1:3376 among Karachays. The clinical picture of the disease was characterized by onset at the age of 11–14 years, weakness in foot muscles and steppage gait. The specific features in the majority of patients were the absence of major sensory disturbances, as well as long-term preserved distal arm muscles. Nerve conduction velocity in the median nerve varied from 30 to 42 m/s, which corresponds to values in patients with CMT2E, previously described.https://nmb.abvpress.ru/jour/article/view/154hereditary motor and sensory neuropathycharcot–marie–tooth disease type 2еkarachay-cherkessianeflmissense mutation с.65g>texsome sequencing |
| spellingShingle | E. L. Dadali A. Kh.-M. Маkаоv V. A. Galkina F. A. Konovalov A. V. Polyakov M. V. Bulakh R. A. Zinchеnkо Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia Нервно-мышечные болезни hereditary motor and sensory neuropathy charcot–marie–tooth disease type 2е karachay-cherkessia nefl missense mutation с.65g>t exsome sequencing |
| title | Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia |
| title_full | Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia |
| title_fullStr | Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia |
| title_full_unstemmed | Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia |
| title_short | Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia |
| title_sort | hereditary motor and sensory neuropathy caused by mutations in the nefl gene in a family from karachaevo cherkessia |
| topic | hereditary motor and sensory neuropathy charcot–marie–tooth disease type 2е karachay-cherkessia nefl missense mutation с.65g>t exsome sequencing |
| url | https://nmb.abvpress.ru/jour/article/view/154 |
| work_keys_str_mv | AT eldadali hereditarymotorandsensoryneuropathycausedbymutationsintheneflgeneinafamilyfromkarachaevocherkessia AT akhmmakaov hereditarymotorandsensoryneuropathycausedbymutationsintheneflgeneinafamilyfromkarachaevocherkessia AT vagalkina hereditarymotorandsensoryneuropathycausedbymutationsintheneflgeneinafamilyfromkarachaevocherkessia AT fakonovalov hereditarymotorandsensoryneuropathycausedbymutationsintheneflgeneinafamilyfromkarachaevocherkessia AT avpolyakov hereditarymotorandsensoryneuropathycausedbymutationsintheneflgeneinafamilyfromkarachaevocherkessia AT mvbulakh hereditarymotorandsensoryneuropathycausedbymutationsintheneflgeneinafamilyfromkarachaevocherkessia AT razinchenko hereditarymotorandsensoryneuropathycausedbymutationsintheneflgeneinafamilyfromkarachaevocherkessia |